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rs281874738

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281874738(C;C)
Make rs281874738(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108571468
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs281874738
ebirs281874738
HLIrs281874738
Exacrs281874738
Varsomers281874738
Maprs281874738
PheGenIrs281874738
hapmaprs281874738
1000 genomesrs281874738
hgdprs281874738
ensemblrs281874738
gopubmedrs281874738
geneviewrs281874738
scholarrs281874738
googlers281874738
pharmgkbrs281874738
gwascentralrs281874738
openSNPrs281874738
23andMers281874738
23andMe allrs281874738
SNP Nexus

SNPshotrs281874738
SNPdbers281874738
MSV3drs281874738
GWAS Ctlgrs281874738
Max Magnitude0
ClinVar
Risk rs281874738(C;C)
Alt rs281874738(C;C)
Reference rs281874738(T;T)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107814698T>C
CLNSRC ARUP COL4A5
CLNACC RCV000032050.1,


[PMID 21505094] Twenty-one novel mutations identified in the COL4A5 gene in Chinese patients with X-linked Alport's syndrome confirmed by skin biopsy.